Interventional genetics

John Burn1

1Newcastle University, Newcastle, UK


The advance of genomics into clinical genetics and oncology is exposing the need to adapt clinical practice.  Clinical genetics has tended to focus on diagnosis and prognosis, leaving therapeutic intervention to others. The strengthening evidence of major cancer prevention with aspirin in those at high genetic risk demands a shift towards prescription alongside prediction.  

Hereditary tumours are an ideal target for interventional trials given the specificity of the molecular mechanism and enthusiasm of patients.  Trk inhibitors can be tested in cylindromatosis patients by comparing tumours in the same patient exposed to placebo and active agent.

"All cancer is genetic" yet tumour and germline DNA collection in routine oncology practice remains the exception rather than the rule. The pivotal role of genomics in future cancer management demands a system change in our approach to the organisation of laboratory services and the care of patients. A novel method of extracting DNA quickly and cheaply at the clinical interface will be presented as a contribution to making interventional genetics a routine reality.